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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term ENSG00000151413:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000151413	NUBPL	1	121	21	ENSG00000151413	ENST00000550005	ENSP00000446511	nucleotide binding protein-like [Source:HGNC Symbol;Acc:20278]	14	31959162	32330430	1	q12	31959162	32031403	NUBPL	NUBPL-004	HGNC Symbol	HGNC transcript name	14	38.49	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	80224	20278	NUBPL		27520

MSeqDR Master Exome Data Set M1: 203 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	14	32030645	C	T	ENST00000281081	ENSG00000151413	31959162	32330430	ENSP00000281081	NUBPL	1	NUBPL_HUMAN	-	-	5'_UTR	rs45468395	0.0106	T=87/C=8197;T=7/C=3901;T=94/C=12098	lod=27:321	-	-	-	het	11
2	14	32030645	C	T	ENST00000547839	ENSG00000151413	31959162	32330430	ENSP00000449918	NUBPL	1	NUBPL_HUMAN	-	-	5'_UTR	rs45468395	0.0106	T=87/C=8197;T=7/C=3901;T=94/C=12098	lod=27:321	-	-	-	het	11
3	14	32030645	C	T	ENST00000548937	ENSG00000151413	31959162	32330430	-	NUBPL	1	-	c.4C>T	p.H2Y	non-syn	rs45468395	0.0106	T=87/C=8197;T=7/C=3901;T=94/C=12098	lod=27:321	-	-	-	het	11
4	14	32030645	C	T	ENST00000550649	ENSG00000151413	31959162	32330430	ENSP00000447618	NUBPL	1	-	-	-	5'_UTR	rs45468395	0.0106	T=87/C=8197;T=7/C=3901;T=94/C=12098	lod=27:321	-	-	-	het	11
5	14	32030722	G	T	ENST00000281081	ENSG00000151413	31959162	32330430	ENSP00000281081	NUBPL	1	NUBPL_HUMAN	c.77G>T	p.G26V	non-syn	rs77539990	0.0134	T=0/G=8246;T=48/G=3848;T=48/G=12094	-	TOLERATED	B	-	het	3
6	14	32030722	G	T	ENST00000547839	ENSG00000151413	31959162	32330430	ENSP00000449918	NUBPL	1	NUBPL_HUMAN	c.77G>T	p.G26V	non-syn	rs77539990	0.0134	T=0/G=8246;T=48/G=3848;T=48/G=12094	-	TOLERATED	B	-	het	3
7	14	32030722	G	T	ENST00000548937	ENSG00000151413	31959162	32330430	-	NUBPL	1	-	c.81G>T	p.W27C	non-syn	rs77539990	0.0134	T=0/G=8246;T=48/G=3848;T=48/G=12094	-	TOLERATED	B	-	het	3
8	14	32030722	G	T	ENST00000549838	ENSG00000151413	31959162	32330430	ENSP00000447658	NUBPL	1	-	c.41G>T	p.G14V	non-syn	rs77539990	0.0134	T=0/G=8246;T=48/G=3848;T=48/G=12094	-	TOLERATED	B	-	het	3
9	14	32030722	G	T	ENST00000550355	ENSG00000151413	31959162	32330430	-	NUBPL	1	-	c.26G>T	p.G9V	non-syn	rs77539990	0.0134	T=0/G=8246;T=48/G=3848;T=48/G=12094	-	TOLERATED	B	-	het	3
10	14	32030722	G	T	ENST00000550649	ENSG00000151413	31959162	32330430	ENSP00000447618	NUBPL	1	-	c.77G>T	p.G26V	non-syn	rs77539990	0.0134	T=0/G=8246;T=48/G=3848;T=48/G=12094	-	TOLERATED	B	-	het	3
11	14	32030722	G	T	ENST00000552489	ENSG00000151413	31959162	32330430	ENSP00000447316	NUBPL	1	-	c.77G>T	p.G26V	non-syn	rs77539990	0.0134	T=0/G=8246;T=48/G=3848;T=48/G=12094	-	TOLERATED	B	-	het	3
12	14	32123311	C	A	ENST00000549838	ENSG00000151413	31959162	32330430	ENSP00000447658	NUBPL	1	-	c.382C>A	p.P128T	non-syn	rs28536186	0.0694	-	-	-	-	-	het	5
13	14	32123326	A	G	ENST00000549838	ENSG00000151413	31959162	32330430	ENSP00000447658	NUBPL	1	-	-	-	3'_UTR	rs8004616	0.4501	-	-	-	-	-	het	7
14	14	32123326	A	G	ENST00000549838	ENSG00000151413	31959162	32330430	ENSP00000447658	NUBPL	1	-	-	-	3'_UTR	rs8004616	0.4501	-	-	-	-	-	hom	1
15	14	32123347	A	C	ENST00000549838	ENSG00000151413	31959162	32330430	ENSP00000447658	NUBPL	1	-	-	-	+7bp 5'_splice_site	rs4981874	0.8029	-	-	-	-	-	het	14
16	14	32123347	A	C	ENST00000549838	ENSG00000151413	31959162	32330430	ENSP00000447658	NUBPL	1	-	-	-	+7bp 5'_splice_site	rs4981874	0.8029	-	-	-	-	-	hom	9
17	14	32142544	A	-T	ENST00000281081	ENSG00000151413	31959162	32330430	ENSP00000281081	NUBPL	1	NUBPL_HUMAN	-	-	-16bp 3'_splice_site	rs67335604	-	-	-	-	-	-	het	28
18	14	32142544	A	+T	ENST00000281081	ENSG00000151413	31959162	32330430	ENSP00000281081	NUBPL	1	NUBPL_HUMAN	-	-	-17bp 3'_splice_site	NA	-	-	-	-	-	-	het	451
19	14	32142544	A	+T	ENST00000281081	ENSG00000151413	31959162	32330430	ENSP00000281081	NUBPL	1	NUBPL_HUMAN	-	-	-17bp 3'_splice_site	NA	-	-	-	-	-	-	hom	68
20	14	32142544	A	-T	ENST00000536705	ENSG00000151413	31959162	32330430	ENSP00000439286	NUBPL	1	-	-	-	-16bp 3'_splice_site	rs67335604	-	-	-	-	-	-	het	28

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding NUBPL 14:31959162..32330430 region Gbrowse